A19T (p.Ala19Thr) variant of CASQ2 (Calsequestrin-2)
A19T (p.Ala19Thr) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- Ensembl rs1649205930
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.25
- MetaLR 0.17
- MetaSVM -0.88
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available